The variable manifestations of disease in pyruvate kinase deficiency and their management

Autor: Hanny Al-Samkari, María del Mar Mañú Pereira, Kevin H.M. Kuo, Paola Bianchi, Andreas Glenthøj, Wilma Barcellini, Bertil Glader, Eduard J. van Beers, Rachael F. Grace, Richard van Wijk

Publikováno v: Haematologica
Al-Samkari, H, Van Beers, E J, Kuo, K H M, Barcellini, W, Bianchi, P, Glenthøj, A, Del Mar Mañú Pereira, M, Van Wijk, R, Glader, B & Grace, R F 2020, ' The variable manifestations of disease in pyruvate kinase deficiency and their management ', Haematologica, vol. 105, no. 9, pp. 2229-2239 . https://doi.org/10.3324/haematol.2019.240846

Pyruvate kinase deficiency (PKD) is the most common cause of chronic hereditary non-spherocytic hemolytic anemia and results in a broad spectrum of disease. The diagnosis of PKD requires a high index of suspicion and judicious use of laboratory tests

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https://pubmed.ncbi.nlm.nih.gov/33054048